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Programme & Speakers

Draft outline of symposium programme (click to open/close)

The ATP1A3 Symposium in Disease 2019

Moving Towards the Light

3-4 October 2019, Grand Hotel Reykjavík, Iceland

Wednesday 2 October 2019

16:00 - 18:00Parents meeting                                  
18:00 - 20:00
Registration and welcome reception at the hotel

Thursday 3 October 2019

Programme from approx. 8:30 am - 5 pm

8:30 amWelcome and remarks by Sigurður Jóhannesson
8:45 amOPENING REMARKS by Guðni Th. Jóhannesson, the President of Iceland (if his schedule permits)
Session 1Examples of how research move towards understanding of disease and progress towards a cure
Moderator: Hendrik Rosewich and Mohamad Mikati
8:55 - 9:00 Introduction by chair Hendrik Rosewich
9:00 - 9:30

David Goldstein (invited speaker): "The long road toward precision medicine in neurological diseases" 

9:30 - 9:55 Peter Vangheluwe (invited speaker): "A screening platform for P-type ATPase drug discovery"
9:55 - 10:20Mohamad Mikati (invited speaker): "Mechanisms of AHC: From Molecules to Networks"
10:20 - 10:50 Coffee break and free poster time
Session 2 Current knowledge and treatment of ATP1A3 diseases   

Moderators: Hendrik Rosewich and David Goldstein

10:50 - 10:55 Introduction by chair Hendrik Rosewich
10:55 - 11:20 Allison Brashear (invited speaker): "RDP phenotypes: The Tip of the Iceberg?"
11:20 - 11:45 Mohamad Mikati (invited speaker): "Therapy of AHC: State of the Art"
11:45 - 11:55Eleni Panagiotakaki (selected oral presentation): "Brain MRI abnormalities in a French cohort of 22 ATP1A3 – positive AHC patients"
11:55 - 12:05John P Snow (selected oral presentation): "An iPSC-Derived Model to Investigate Neural Lineage Contributions to Alternating Hemiplegia of Childhood"
12:05 - 12:15Round the table discussion and questions for the box    
12:20 - 13:15 Lunch
Session 3
New coming treatment of ATP1A3 diseases   

Moderators; Sigurður  Hólmar Jóhannesson and Karin Lykke-Hartmann

13:15 - 13:20 Introduction by chair Sigurður Hólmar Jóhannesson
13:20 - 13:45 Steven Gray (invited speaker): "Steps Toward Gene Therapy for ATP1A3"
13:45 - 14:10 Alfred L. George & Arn van den Maagdenberg (invited speaker & organizing committee member): “SCN2A: an AHC gene?” 
14:10 - 14:20Evgeny E. Akkuratov (selected oral presentation): "Abnormal gait control in a rapid-onset dystonia-parkinsonism mice mode"
14:20 - 14:30

Agathe Roubertie (selected oral presentation): "Non-paroxysmal movement disorders in patients with Alternating Hemiplegia of Childhood: “soft” and “stiff” "

14:30 - 14:40 Round the table discussion and questions for the box
14:40 - 15:20 Coffee break and poster session
Session 4 Quality of life and education

Moderators: Sigurður Hólmar Jóhannesson and Kevin Ess

15:20 - 15:25
Introduction by chair Sigurður Hólmar Jóhannesson
15:25 - 15:45 Hendrik Rosewich (organising committee member) - lecture title to be announced
15:45 - 16:05 Yr Sigurdardottir: "I met a zebra" - A talk about the difficulty in diagnosing rare diseases and the challenges of being the least knowledgeble person in the room
16:05 - 16:20 Laura Darick Heimgartner: "How do we manage this - AHC and the Quality of Life" - It's our story of where we began with AHC, and how we find our Hope and Relief in the daily struggles of AHC
16:45 - 18:45

Tour to the Perlan Museum (entrance and bus transport included in reg. fee)

GROUP PHOTO at the museum
20:00 - 22:30SYMPOSIUM DINNER at the hotel (your symposium badge will serve as entrance)
21:30 - 21:50Keynote Lecture by Helga Birgisdottir: "We Can Do It!"
22:00 - 22:15Entertainment by singer Særún Harðardóttir
22:30 -Social interactions

Friday 4 October 2019

Programme from 8:30 - 15:00

Session 5
Molecular mechanisms of Na+K+-ATPases     

Moderators: Hanne Poulsen and Poul Nissen

8:30 - 8:35 Introduction by chair Hanne Poulsen
8:35 - 9:00 Poul Nissen (organising committee member): "Electron microscopy studies of membrane proteins - towards structures of ATP1A3"
9:00 - 9:25

Marisol Sampedro Castaneda (invited speaker): "ATP1A3 phosphorylation by GAK kinases: a role in disease?" 

9:25 - 9:35 Elena Arystarkhova (selected oral presentation): "Misfolding mutations in ATP1A3: cell biological approaches to overcome impaired biosynthesis"
9:35 - 9:45 Lorenzo Antonini (selected oral presentation): "ATP1A3 wild type and mutated isoforms molecular dynamics simulations in a lipid membrane bilayer. Insights on protein structure and ion interactions"
9:45 - 10:30 Coffee break and poster tours
Session 6 Towards new therapies  

Moderators: Karin Lykke-Hartmann and Arn Van den Maagdenberg

10:30 - 10:35 Introduction by chair Karin Lykke-Hartmann
10:35 - 11:00 Guangping Gao (invited speaker): "Gene Therapy for CNS disorders – history, principles, challenges and approaches"
11:00 - 11:25Francesco Danilo Tiziano (invited speaker): "Human neuroblastoma model of AHC: towards a medium throughput screening of candidate therapeutic compounds"
11:25 - 11:35 Alfred L. George (selected oral presentation): "Effects of Flunarizine on iPSC-derived Neurons from AHC Patients Exhibiting Divergent Clinical Responses"
11:35 - 11:45 Catherine Brownstein (selected oral presentation): "ATP1A3 variants in a Sudden Infant Death Syndrome cohort"
11:45 - 12:00 Round the table discussion and questions for the box
12:00 - 13:00Lunch
Session 7
deCODE Genetics  
13:00 - 13:05 Introduction by Sigurður Jóhannesson
13:05 - 13:45

Keynote Lecture by Hreinn Stefánsson, Head of the Central Nervous System Division at the company deCODE genetics: "From gene discovery to therapeutic advances" 

13:45 - 14:00 Short break
Session 8 Moving towards the light

By organising committee members:

Karin Lykke-Hartmann
Hanne Poulsen
Poul Nissen
Arn van den Maagdenberg

Hendrik Rosewich
Sigurður Hólmar Jóhannesson

Note the dates

Registration and payment deadlines

Early birdApril - 31 May 2019
Standard1 June - 1 August 2019

Abstract submission deadline for poster & oral presentation

Abstract subm.April - 1 August

Confirmed Invited Speakers

Further confirmed invited speakers will be announced soon

Confirmed Invited Speaker


Child Neurologist and Epileptologist, University Hospital of Iceland, Reykjavik, Iceland